A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230332



Internal ID22371889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29903076..29903452hg38UCSC Ensembl
chr16:29914397..29914773hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387035, nssv14383626
SamplesNA19239, HG00513
Known GenesASPHD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230332
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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